Monday, April 19, 2010

First, I would like to start out by saying thank you to everyone who commented on Addy's last post about the Tiger's game. We had an overwhelming response from so many about just how touched they were by the story and how they have continued to tell the story to others. We felt just as touched to hear from each of you. Thanks for all the love and support you show for this little girl.

Now, on to the best part. We have a call reversal from the neurologist. Dr. Ascadi called to say that he had an opportunity to review all of Addy's x-rays and MRI's from birth on while sitting with a radiologist. It became very apparent now that he knows Addy and was able to talk about her to the radiologist that the last MRI clearly showed that she has Klippel Feil Syndrome. As soon as I heard the news that Addy had fused vertebrae, I thought for sure she would be given this diagnosis, but the neurologist felt differently at the appointment. This now explains the low hairline, short neck, cleft palate, fused vertebrae and the kidney issue.

So, he stated that congenital muscular dystrophy is not what he feels she has, (a big sigh of relief), however, Klippel Feil Syndrome does not explain the overall muscle weakness that she has especially the weakness in her legs along with some other minor abnormalities. So, now the question becomes, does she have something else going on as well? Does she still have what some would consider Arthrogryposis? Where do we go next?

Dr. Acsadi would like to rule out a dystrophy all together just to be sure. This can be done with a simple blood test. Then our next steps are to be this. An EMG muscle test will come first. If that shows us nothing, we can move on to an MRI of the muscles of the legs and then last, but hopefully not needed would be a muscle biopsy.

The EMG and blood test are scheduled for this Thursday. The EMG will require slight sedation as they actually send electric shocks into the muscles to record the responses. We will be heading to Children's hospital for both in the afternoon. Then the following week we are off to see a specialist for the kidney issue and the week after that we spend one night at the hospital for Addy's 24 hour EEG.

My list of questions continues to grow and now I am on a mission to find a specialist who deals with Klippel Feil Syndrome. I think I might have found one out of UofM. Dr. Acsadi would also like us to begin attending the Muscular Dystrophy clinic through Children's Hospital. Even though we don't think it's a dystrophy, whatever is going on is very muscular related and he feelsshe would benefit from the clinics. So, our first clinic is coming up May 12th. My head is spinning with all the medical things we have done so far and how much we still have coming up. Can we fit all this in before the next munchkin arrives???? We shall see!

Sunday, April 11, 2010

Today we ventured out to the Tiger's game. It was Kid's opening day and I thought it would be nice to take Addy before the baby arrives. It took me well over a month just to get tickets. Children under 3 are supposed to be free (well considering they sit on a parent's lap), however, in order for us to be able to go we needed to take Addy's orthopedic stroller which meant we needed a third handicapped seat for the stroller. I didn't think it was fair to have to pay for a third seat when children under 3 are supposed to be free so it took a little legwork. I must have explained my story to about 4 people in the ticket and box office when I finally reached someone in the season ticket office who was nice enough to help us out. In the end, we were able to sit in the handicapped section while only paying for two seats.

It was a beautiful day and Addy was very excited. Apparently on Friday, she told everyone at daycare that she was going to a Tiger's game. I never thought she would get so excited, so that was nice to see. She scored a Tiger paw as we entered the game and got a free ride on the carousel because of kids day. She was very well behaved the entire game. It was nice to be in the handicapped section because we had enough room to give her the walker and let her stand or sit to watch the game. The orthopedic stroller has been very nice as we are now able to take the stroller and the walker to outings.

After watching the Tiger's get off to a bad start, we were very excited to see them come back and win in the 9th inning. Awesome! We had planned to stay to run the bases when the game finished. I never could have imagined what happened next. We waited in line along with thousands of kids. We got down to the field and we gave Addy her walker. As we started out at first base and headed to second, Addy walked along with the crowd of kids. I walked beside her while Aaron took the stroller to meet us at home plate. Parents really weren't suppose to go on the field unless the children were very young and, well, in our case it was fine. As we approached second base, I looked around and started to notice that there were no longer kids running on the field. As I looked over my shoulder, I could see that the ushers had stopped the line of kids from going on the field. I didn't think much of it and the thought crossed my mind that maybe they only let so many on the field at a time. As we left second base and began approaching third, it really hit me. They had stopped the line of kids so that Addy could run the bases by herself without the crowd of kids surrounding her. Everyone in the ball park at this point was cheering her on. I was shocked to say the least! Thousands of people cheering for one special little girl. It was absolutely amazing. She rounded third base and headed home where she reached down to touch the plate with her hand and thousands of people clapping. At this point I could hardly take a picture because I had tears in my eyes. After reaching home, Dave Dombrowski, the Tiger's president approached us to ask her name, age and to get a picture. He gave her a high five for a job well done. Aaron looked over to see ushers who even had tears in their eyes. As we proceeded to leave the ball park, even on the streets of Detroit, people were approaching us and telling us how awesome that was. It was one of those situations in which you wish you could do it all over again and have a video camera in your hand. It all happened so fast and when it was over we were able to see how one little girl can touch so many lives. A day that Aaron and I will never forget!

Wednesday, April 7, 2010

Another trip to the doctor, neurology this time, and a new possible diagnosis. We originally scheduled a neurology appointment because of the seizure that Addy had back at the beginning of March. Since then, neurology has become a key part in helping us determine a possible new diagnosis for Addison. I was anxious to see the neurologist for the first time to talk about Addy's recent brain MRI as well as the spinal MRI and skeletal survey. A few weeks back when we saw Dr. Dabrowski, he too felt that neurology would be very helpful. He certainly was. We saw Dr. Acsadi from Children's hospital. What a wonderful man!

He definitely put my mind at ease with the brain MRI. He felt that Addy's seizure was fever/viral related and hopefully was just a fluky one time occurrence. He did give us a prescription for Diastat which is a valium that can be administered rectally should she happen to have another seizure. That would allow us to stop the seizure if it happened to progress for a period of time to ensure that no damage is occurring to her brain. He also felt that the MRI was normal for her age and after seeing her felt as though we shouldn't be worried about anything with her neurologically. Whew!

We did receive the results from Addy's spinal MRI. It showed that C2, C3 and C4 (the vertebrae in Addy's neck/spine) are fused together. This blew my mind since we had a cervical MRI done at 4 months along with several cervical x-rays along the way. All of which came back normal. It does however, explain why Addy has so much stiffness in her upper torso and neck area. The MRI also showed a possible issue with one kidney which might require further testing. No huge concerns about the kidney at this point.

Now, onto the next possible diagnosis. After examination, Dr. Acsadi said that he has seen a case several years back that presented much like Addison. The diagnosis ended up being congenital muscular dystrophy or rigid spine syndrome. The genes for the syndrome have recently been detected and he would like Addy to undergo genetic testing for those specific genes. If those tests come back normal, then we will proceed to a muscle biopsy. This involves taking out a small piece of muscle, usually from the thigh. When the muscle is studied under the microscope, it is possible to look for changes, which might indicate a muscle problem. In children with a muscular dystrophy the muscle fibres, instead of being evenly sized, show a great variation and some of these fibres are replaced by fat and fibrous tissue. Some more blood work will also occur to measure for the levels of muscle protein. During this time, Dr. Acsadi will be reviewing all of Addy's MRI's and x-rays from birth to now along with a radiologist to look closer at the muscles.

If this should become Addy's diagnosis, it is a genetic condition. It would mean that myself and my husband are carriers of the gene although we present no symptoms. We have a 25% chance or 1in 4 pregnancies to pass this on to our children. At this point we are praying that everything will turn out okay with the new baby. I am able to tell from comparison, that the new baby definitely moves around in utero much more than Addy ever did. However, at the time, it was my first pregnancy and I didn't have any idea how much a baby should be moving.

So our next step along with all the testing is to begin attending the muscular dystrophy clinic that Children's Hospital holds each month. This includes doctors, therapists, orthotists, vendors and representatives from the Muscular Dystrophy association who will be on hand at each clinic to watch for progression with each child as well as get us set up with many supports that we will need as Addison continues to grow.

Should this ultimately become Addy's diagnosis, we are fortunate that the type of MD is not too severe. It is difficult to tell at this point if she will ever gain enough muscle strength to become an independent walker and if she does whether or not we will see changes in her muscle strength as she grows. Only time will tell. Scoliosis will be a huge component to keep an eye on. She currently does not have scoliosis, but this condition can lead to it.

It certainly has been a whirlwind of a month, but I guess in the end it will lead to answers that I have been looking for since the day she was born. Here are a few cute pics of the last week

Saturday, April 3, 2010

I'm the wife to a great guy and a mother to a child with special needs. Follow our journey through life and the daily happenings of two daughters: Addison Christine, our oldest, who has a diagnosis of Arthrogryposis Multiplex Congenita, Klippel Feil Syndrome and a Seizure Disorder and Breslyn Anna, our youngest, just recently born into our family.